Zeviani M - Search Results

1

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E, De Meirleir L. Dionisi-Vici C, et al. Among authors: zeviani m. J Inherit Metab Dis. 1998 Feb;21(1):2-8. doi: 10.1023/a:1005397227996. J Inherit Metab Dis. 1998. PMID: 9501263

2

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.

Di Nottia M, Montanari A, Verrigni D, Oliva R, Torraco A, Fernandez-Vizarra E, Diodato D, Rizza T, Bianchi M, Catteruccia M, Zeviani M, Dionisi-Vici C, Francisci S, Bertini E, Carrozzo R. Di Nottia M, et al. Among authors: zeviani m. Biochim Biophys Acta Mol Basis Dis. 2017 Apr;1863(4):961-967. doi: 10.1016/j.bbadis.2017.01.022. Epub 2017 Jan 26. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28132884 Free PMC article.

3

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Among authors: zeviani m. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

4

Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

Caruso U, Adami A, Bertini E, Burlina AB, Carnevale F, Cerone R, Dionisi-Vici C, Giordano G, Leuzzi E, Parenti G, Savasta S, Uziel G, Zeviani M. Caruso U, et al. Among authors: zeviani m. J Inherit Metab Dis. 1996;19(2):143-8. doi: 10.1007/BF01799415. J Inherit Metab Dis. 1996. PMID: 8739951 Review. No abstract available.

5

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.

Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, Di Mauro S, Di Donato S, Tonali P. Servidei S, et al. Among authors: zeviani m. Neurology. 1991 Jul;41(7):1053-9. doi: 10.1212/wnl.41.7.1053. Neurology. 1991. PMID: 2067633

6

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. Tiranti V, et al. Among authors: zeviani m. Am J Hum Genet. 1998 Dec;63(6):1609-21. doi: 10.1086/302150. Am J Hum Genet. 1998. PMID: 9837813 Free PMC article.

7

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Catania A, Ardissone A, Verrigni D, Legati A, Reyes A, Lamantea E, Diodato D, Tonduti D, Imperatore V, Pinto AM, Moroni I, Bertini E, Robinson A, Carrozzo R, Zeviani M, Ghezzi D. Catania A, et al. Among authors: zeviani m. J Hum Genet. 2018 May;63(5):563-568. doi: 10.1038/s10038-018-0423-1. Epub 2018 Mar 12. J Hum Genet. 2018. PMID: 29531337 Free PMC article.

8

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants.

Tiranti V, Munaro M, Sandonà D, Lamantea E, Rimoldi M, DiDonato S, Bisson R, Zeviani M. Tiranti V, et al. Among authors: zeviani m. Hum Mol Genet. 1995 Nov;4(11):2017-23. doi: 10.1093/hmg/4.11.2017. Hum Mol Genet. 1995. PMID: 8589677

9

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).

Zeviani M, Gellera C, Antozzi C, Rimoldi M, Morandi L, Villani F, Tiranti V, DiDonato S. Zeviani M, et al. Lancet. 1991 Jul 20;338(8760):143-7. doi: 10.1016/0140-6736(91)90136-d. Lancet. 1991. PMID: 1677065

10

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.

Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. Zeviani M, et al. Nature. 1989 May 25;339(6222):309-11. doi: 10.1038/339309a0. Nature. 1989. PMID: 2725645

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